CDKN1Cmutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
Author:
Publisher
BMJ
Subject
Genetics(clinical),Genetics
Reference36 articles.
1. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations;Netchine;J Clin Endocrinol Metab,2007
2. Epigenetic and genetic mechanisms of abnormal 11p15 genomic imprinting in Silver-Russell and Beckwith-Wiedemann syndromes;Demars;Curr Med Chem,2011
3. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome;Gicquel;Nat Genet,2005
4. Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures;Eggermann;Horm Res,2009
5. Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome;Bullman;J Med Genet,2008
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